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: GRACILE Syndrome (3)
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Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
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2002 paper by Visapää et al.
Status Code: 200
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Molecular Genetics of The Gracile Syndrome
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Very detailed information in the form of a dissertation by Ilona Visapää.
Status Code: 200
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Online Mendelian Inheritance in Man
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Details the state of knowledge of the genetics of Gracile Syndrome.
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Inherited : GRACILE Syndrome
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Last RDF update: 01-10-2008